Gene Summary

Name:
protogenin
Synonyms:
Igdcc5,  A230098A12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Prtgem1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Prtg mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prtg by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Arrhinia
Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent... ORPHA:1134
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage OMIM:142946
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Absent nasal septal cartilage, Depressed nasal ridge, Meningocele ORPHA:2003
Holoprosencephaly 7
Hypoplasia of the premaxilla, Depressed nasal tip, Flat nasal alae, Short nose, Absent nasal sept... OMIM:610828
Boomerang Dysplasia
Severe short stature, Hypoplastic nasal septum, Neonatal death, Underdeveloped nasal alae, Wide n... OMIM:112310
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Absent nasal septal cartilage, Proboscis OMIM:157170
Acitretin/Etretinate Embryopathy
Anteverted nares, Micrognathia, Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla ORPHA:40366
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Moderate postnatal growth retardation, Hypoplasia of the nasal bone, Knee flexio... OMIM:118650
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Craniosynostosis, Osteopenia, Depressed nasal bridge, Short nose, Postnatal growth retardation, I... OMIM:614732
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Severe short stature, Retrognathia, Osteopenia, Depressed nasal bridge, Microgna... ORPHA:1901
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Carious teeth, Increased susceptibility t... OMIM:146300
Multiple Synostoses Syndrome 1
Carpal synostosis, Proximal/middle symphalangism of 4th toe, Hypoplastic nasal septum, Wide nasal... OMIM:186500
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Wide nasal bridge, ... OMIM:277440
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets, Short stature OMIM:193100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Hypophosphatemic Bone Disease
Osteomalacia, Rickets, Short stature OMIM:146350
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Epistaxis, Rickets, Short stature OMIM:211600
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Short stature, Osteomalacia, Delayed eru... ORPHA:289157
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Growth delay, Osteomalacia, Rickets ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Delayed eruption of... OMIM:264700
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Short stature OMIM:613388
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, G... OMIM:600081
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Short stature, Reduced bone mineral density, Osteomalacia, Pathologic f... ORPHA:157215
Neu-Laxova Syndrome
Flexion contracture, Depressed nasal ridge, Retrognathia, Osteopenia, Micrognathia, Osteomalacia,... ORPHA:2671
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Short stature, Osteoarthritis, Osteomalacia, Enamel hypomineralization,... OMIM:307800
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Short stature, Osteomalacia, Abnormal bone structure, Osteolysis,... ORPHA:93160
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Fanconi Renotubular Syndrome 3
Growth delay, Rickets, Short stature OMIM:615605
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Severe short stature, Osteopenia, Camptodactyly of finger, ... ORPHA:2176
Sponastrime Dysplasia
Delayed epiphyseal ossification, Intrauterine growth retardation, Ivory epiphyses of the phalange... ORPHA:93357
Cystinosis
Delayed puberty, Polydipsia, Rickets, Short stature ORPHA:213
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Short stature OMIM:134600
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Short stature, Osteomalacia, Thin bony cortex, Abnormal bone stru... ORPHA:249
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Short stature, Oste... OMIM:300009
X-Linked Hypophosphatemia
Growth delay, Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, ... ORPHA:89936
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Short stature OMIM:611590
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Vexas Syndrome
Nasal chondritis, Chondritis of pinna, Arthritis OMIM:301054
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Hypercholanemia, Familial 1
Rickets OMIM:607748
Mccune-Albright Syndrome
Recurrent fractures, Monostotic fibrous dysplasia, Dental malocclusion, Fibrous dysplasia of the ... ORPHA:562
Celiac Disease, Susceptibility To, 1
Short stature, Osteoporosis, Enamel hypoplasia, Delayed puberty, Postnatal growth retardation, Ri... OMIM:212750
Acrodysostosis With Multiple Hormone Resistance
Depressed nasal bridge, Hypoplasia of the nasal bone, Anteverted nares, Mandibular prognathia, Mi... ORPHA:280651
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Hypophosphatemic Rickets
Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth abscess, Osteomalacia, Patchy v... ORPHA:437
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Rickets ORPHA:79303
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bulbous nose, Severe short stature, Abnormally ossified vertebrae, Retrognathia, Osteopenia, Long... ORPHA:2636
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Rickets, Short stature OMIM:268315
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Short stature OMIM:612089
Fanconi-Bickel Syndrome
Osteopenia, Growth delay, Rickets ORPHA:2088
Distal Renal Tubular Acidosis
Polydipsia, Reduced bone mineral density, Short stature, Osteomalacia, Increased susceptibility t... ORPHA:18
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Short stature OMIM:616026
Occipital Horn Syndrome
Abnormality of the sense of smell, Osteopenia, Osteomalacia, Osteoporosis, Synostosis of joints, ... ORPHA:198
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... ORPHA:1652
Wilson Disease
Hyposmia, Osteoarthritis, Osteomalacia, Osteoporosis, Joint hypermobility, Dysphagia OMIM:277900
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Osteomalacia, Osteoporosis, Rickets ORPHA:309031
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Joint stiffness, Taurodontia, Short stature, Micrognathia, Osteomalacia, Del... ORPHA:534
Infantile Nephropathic Cystinosis
Growth delay, Polydipsia, Rickets ORPHA:411629
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Cystinosis, Nephropathic
Polydipsia, Hypophosphatemic rickets, Short stature, Delayed puberty, Dysphagia, Growth delay, Ri... OMIM:219800
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Short stature, Camptodactyly of finger, Osteomalacia, Pathologic f... OMIM:309000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Reduced bone mineral density, Short stature, Osteopenia, Thin bony cortex, Joint laxity, Growth d... OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Primary Fanconi Renotubular Syndrome
Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Calcification of the auricular cartilage, Osteomalacia, Abnormal calcif... ORPHA:51608
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Arthritis OMIM:619381

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prtg

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prtg.

No publications found that use IMPC mice or data for Prtg.

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MGI Allele Allele Type Produced
Prtgem1(IMPC)Bay Exon Deletion Mice
Prtgtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prtgtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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